BabyScreen+ newborn screening
Gene: TNFRSF11B

TNFRSF11B (TNF receptor superfamily member 11b)
EnsemblGeneIds (GRCh38): ENSG00000164761
EnsemblGeneIds (GRCh37): ENSG00000164761
OMIM: 602643, Gene2Phenotype
TNFRSF11B is in 6 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

I don't know

Strong gene disease association
Causes generalised rapid bone turnover due to osteoprotogerin (OPG) deficiency
Short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness - also vascular risk of calcification and aneurysms
Variable age of onset - mostly early childhood but with bi-allelic missense can be later onset
Treatment evidence is from case reports or case series only.
Bisphosphanates - available
recombinant OPG - available in clinical trials for other indications only
denosumab - monoclonal antibody - tried in a handful of patients, not sufficient evidence in children.

** phenotype is partially treatable with bisphosphonates (better than nothing?) I think probably green. ?also variability in severity and age of onset though...
Created: 6 Dec 2022, 1:44 a.m. | Last Modified: 6 Dec 2022, 1:44 a.m.

Panel Version: 0.1154

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Paget disease of bone 5, juvenile-onset MIM#239000

Publications

PMID: 25108083, PMID: 34166796, PMID: 29080812

Created: 6 Dec 2022, 1:44 a.m.
Last Modified: 6 Dec 2022, 1:44 a.m.
Panel version: 0.1154

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
BabySeq Category A gene

Phenotypes

Paget disease of bone 5, juvenile-onset MIM#239000

Tags

for review skeletal

OMIM

602643

Clinvar variants

Variants in TNFRSF11B

Penetrance

None

Publications

Panels with this gene